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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Disease with Diffuse Palmoplantar Keratoderma As a Major Feature
Alias:
Disease with Diffuse Palmoplantar Hyperkeratosis As a Major Feature
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
以弥漫性掌跖角化病为主要特征的疾病,又称以弥漫性掌跖角化病为主要特征的疾病,与以弥漫性掌跖角化病为主要特征的常染色体隐性遗传病和以弥漫性掌跖角化病为主要特征的常染色体显性遗传病有关。附属组织包括皮肤。
Related ID:
MALACARDS:DSS028
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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DSS028
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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